JULY EDITION
PEDIATRIC PUZZLER
Chief Complaint
“Something is wrong with him”“I’m frustrated because he won’t gain
weight!”
HPI
13 mo male brought to the PCP for poor weight gain.
Eats varied table foods and breastfeeds at night. He still drinks Elecare as well.
Birth and Developmental History
38 WGARepeat C/SNo perinatal complications, went home with
momBW 3.1kg
Gross motor: walked at 11 monthsVerbal: 3 wordsWell coordinatedNo obvious vision or hearing problems
Past Medical History
Constipation Treated with Miralax (polyethylene glycol) Hirschsprung was considered but not worked up b/c
he improved after MiralaxNKDAFood Allergies: Diarrhea after watermelon Immunzations: UTDFamily History: Uncle with wheat allergySocial: Lives with parents, and healthy 6 yo
sister; no daycare, no recent travel
Birth3.1kg (25%) 48.5 cm (25%)7mo 6.9 kg (10%) 67 cm (25%)13mo 7.1 kg (<<5%) 74 cm (25%)
Weight/age 4mo!!!
HC: 13 mo 45.5cm (25%)
Physical Exam
T 98.6 P 120 R 30 BP 94/54Gen: Thin but alert and well. HEENT: AF closed, OP clear, neck supple, no LAD or
thyromegalyCV: RRR no murmursLungs: CTABAbd: Soft, NT/ND, no HSM, no masses, GU: + Circ, testes descended, rectal exam with
normal toneSkin: subcutaneous tissue wasting, no rashNeuro: PERRL, EOMi, no gross cranial nerve
defects, normal tone, DTRs 2+ throughout, racing around room and babbling
This is a picture of our patient. What do you notice?
What do you think?
DISCUSS AS A GROUP YOUR TOP 3 DIFFERENTIAL DIAGNOSES
WHAT 3 TESTS DO YOU WANT TO ORDER?
Causes of Failure to Thrive
Can be divided into 3 broad categories
1. Caregivers failure to offer sufficient calories
2. Child’s failure to take in sufficient calories
3. Child’s failure to retain sufficient calories
More History and Observations
The child was hospitalized for workup of FTTMother and son are observed to be well
bondedCalorie count: 70-80 kcal/kg/d
IS THIS ADEQUATE INTAKE?Nurses note that mom is an excellent caregiver
and offers patient a variety of appropriate foodsHowever, the child self-limits his intake to 75
kcal/kg/d
Labs/ Testing
CBC
CMP
ESR
Celiac Panel
Stool studies Heme Fat Reducing
Substances O/P
Calorie Count
EGD– mild esophagitis and gastritis
WHAT DO YOU THINK?
Is reflux our answer?
The patient was started on a PPI. The option of starting a prokinetic agent was discussed with the family who ultimately refused because of possible side effects.
COULD REFLUX EXPLAIN HIS REFUSAL TO EAT?
SOMETHING DID NOT SIT RIGHT WITH THE PHYSICIAN
More Testing Done
More Labs Done
UA- normalSweat test- negative
Further Workup? Is it worth the money?
While waiting for the PPI to work and weight gain to be documented, would you…
Do a cardiac workup?Do an immunology workup?What about endocrine/metabolic disorder?
More and more labs
ThyroxineCortisolLactate Pyruvate(Growth hormone)
Normal!
Follow up
The patient still is eating poorly even after PPI for a few days
Not gaining weight wellParents are very frustrated and want to go
home boy is discharged from hospital
Does the fact that a happy, normal child refuses to eat concern you?
What do you think?
DISCUSS AS A GROUP YOUR TOP 3 DIFFERENTIAL DIAGNOSES
ANY OTHER TESTS YOU WANT TO ORDER?
Oh no! A kink in the story
The parents start to notice that the boy is unsteady and has fallen several times (9 days after hospital d/c)
On PE: Ataxia and anisocoria are notedPlain CT of brain done-
3.5 x 3 x 3 cm hypodense suprasellar tumor is notedMRI
Enhancing hypodense mass that tracks posteriorly along optic tracts c/w astrocytoma
MRI showing solid, enhancing, suprasellar mass lesion in area of hypothalamus and third ventricle
Didn’t expect to see that, did you?
DIENCEPHALIC SYNDROME SECONDARY TO CHAISMATIC TUMOR!
Final Diagnosis
Should we have thought of this?
Yes! Reflux usually resolves/ improves as the
child ages. Symptomatic treatment should have helped his refusal to eat.
Cachexia is not a normal finding is an otherwise happy and active child. It should be considered a localizing sign.
Child was very active and had to be distracted to eat- is this normal behavior?
Causes of Failure to Thrive
Caregivers failure to offer sufficient calories Stress Anxiety Food shortage/ low income Parental substance abuse
Child’s failure to take in sufficient calories Reflux Oromotor dysfunction
Causes of Failure to Thrive
Child’s failure to retain sufficient calories Malabsorption
Celiac CF Milk protein allergy
Hypermetabolic State Hyperthyroid Renal disease Chronic infection (HIV, immune deficiency) Diencephalic syndrome
Genetic anomalies (IEM)
The Diencephalon is a forebrain structure that includes the thalamus, hypothalamus, and pineal gland
Diencephalic Syndrome
Diencephalic syndrome is a rare but potentially fatal cause of failure to thrive in infants and young children
It is a paraneoplastic syndrome resulting from a mass– usually in the optic chiasm or hypothalamic region
Diencephalic Syndrome
Emaciation occurs despite adequate energy intake
Linear growth is spared or even acceleratedHead circumference is usually normal
1/3 can have obstructive hydrocephalus Pseudohydrocephalic appearance
Abnormal neuro findings may be absent or slow to appear
Epidemiology
Mean age at onset of symptoms 6-12 moVery rare but patients with diencephalic
syndrome are often misdiagnosed Reflux Celiac Psychosocial
Symptoms
Feature Frequency
Emaciation 100%
Alert appearance 87%
Hyperkinesis 72%
Vomiting 68%
Euphoria 59%
Pallor 55%
Nystagmus 55%
Hydrocephalus 33%
Irritabilty 32%
Tremor 23%
Sweating 15%
Papilledema <5%
The Mass
The differential of the mass may include: Astrocytoma Germinoma Craniopharyngioma Histiocytosis Glioma
? Secondary to neurofibromatosis
Pathogenesis
Exact mechanism unknownBelieved to be due to hypothalamic factors
Growth hormone Location of tumor
Satiety center Euphoria center
WHAT ARE THE TAKE HOME MESSAGES IN THIS CASE?
Take Home Message
Take Home Points
Patient fails to gain weight under strict monitoring– expand your DDx
Psychosocial issues may cloud your initial impression
Growth parameters are very important!FTT with emaciation, euphoria, hyperactivity
suggests diencephalic syndrome Even with normal neuro exam Think about neuroimaging
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